title: Molecular characterization of the Fy(a-b-) phenotype in a Polish family.
abstract: The Fy(a-b-) phenotype, very rare in Caucasians and defined by the homozygous FY(*)B-33 allele, is associated with the -33T>C mutation in the promoter region of the FY gene. The allele FY(*)X is correlated with weak expression of Fy(b) antigen due to 265C>T and 298G>A mutations in FY(*)B allele. The purpose of this study was molecular characterization of Fy blood group antigens in Fy(a-b-) members of a Polish family. High-resolution melting analysis was performed to detect single nucleotide polymorphisms in amplified fragments of the FY gene. The Fy(a-b-) phenotype in three siblings of the Polish family was caused by the FY(*)X/FY(*)B-33 genotype.
authors.affiliation: Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wrocław, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Karolak
authors.forename: Magdalena
authors.initials: M
authors.lastname: Grodecka
authors.forename: Anna
authors.initials: A
authors.lastname: Suchanowska
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Klausa
authors.forename: Stanisława
authors.initials: S
authors.lastname: Bochenek
authors.forename: Edyta
authors.initials: E
authors.lastname: Majorczyk
authors.forename: Marcin
authors.initials: M
authors.lastname: Czerwiński
authors.forename: Kazimiera
authors.initials: K
authors.lastname: Waśniowska
mesh_terms: D000483:Alleles; D004375:Duffy Blood-Group System / Q000235:genetics*; D005190:Family; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D011956:Receptors, Cell Surface / Q000235:genetics*; D035781:Siblings
chemical_list: C473745:ACKR1 protein, human; D004375:Duffy Blood-Group System; D011956:Receptors, Cell Surface
keywords: Duffy antigen; HRM genotyping